Rekha Pai
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View article: Real World Outcomes with Tepotinib in a Series of Indian Patients with MET Exon 14 Skipping positive Non-Small Cell Lung Cancer
Real World Outcomes with Tepotinib in a Series of Indian Patients with MET Exon 14 Skipping positive Non-Small Cell Lung Cancer Open
The plethora of targetable variants among non-small cell lung cancers is on the rise, making it one of the most important cancer types in the context of precision oncology. Recently, the MET exon14 skipping mutation has emerged as a novel …
View article: Analysis of the effect of baseline detection and early clearance of ct-DNA, on survival outcomes among patients with advanced EGFR-mutant non-small cell lung cancer
Analysis of the effect of baseline detection and early clearance of ct-DNA, on survival outcomes among patients with advanced EGFR-mutant non-small cell lung cancer Open
Baseline detection of the presence of ct-DNA of EGFR mutation in plasma was not predictive of first-line PFS, but is associated with extra thoracic disease. Patients with EGFR mutation and persistence of ct-DNA at first follow-up have wors…
View article: Role of Genetic Testing in the Management of Indeterminate Thyroid Nodules in the Indian Setting
Role of Genetic Testing in the Management of Indeterminate Thyroid Nodules in the Indian Setting Open
The increased detection of thyroid nodules in the human population has led to an increase in the number of thyroid surgeries without an improvement in survival outcomes. Though the choice for surgery is straightforward in malignant thyroid…
View article: Molecular profile & clinical outcome in 121 cases - experience from a tertiary referral centre in South India
Molecular profile & clinical outcome in 121 cases - experience from a tertiary referral centre in South India Open
Ewing sarcoma is the second most common sarcoma involving the bones in children and adolescents. Published data on the clinical features, morphology, translocation and follow-up of patients with Ewing sarcoma from India, is sparse. Objecti…
View article: Abstract 62
Abstract 62 Open
Background: Surgical resection of growth hormone (GH) secreting pituitary adenomas causing acromegaly has a low remission rate of about 53%. Determining the expression of dopamine and somatostatinreceptorson these tumours may help in predi…
View article: Utility of reverse transcriptase – Multiplex ligation-dependant probe amplification (RT-MLPA) in the molecular classification of Diffuse Large B cell lymphoma (DLBCL) by cell-of-origin (COO)
Utility of reverse transcriptase – Multiplex ligation-dependant probe amplification (RT-MLPA) in the molecular classification of Diffuse Large B cell lymphoma (DLBCL) by cell-of-origin (COO) Open
Classifying diffuse large B cell lymphomas, not otherwise specified (DLBCL, NOS), is based on their cell-of-origin (COO) which is included in the WHO classification (2016), is essential to characterize them better in context of prognostica…
View article: Subclonal evolution in the mutational landscape of early Triple negative breast cancer (TNBC) on multi-agent chemotherapy: Comparison of Pre- And Post-Neoadjuvant Chemotherapy (NAC) Samples Of TNBC Patients With Residual Disease
Subclonal evolution in the mutational landscape of early Triple negative breast cancer (TNBC) on multi-agent chemotherapy: Comparison of Pre- And Post-Neoadjuvant Chemotherapy (NAC) Samples Of TNBC Patients With Residual Disease Open
Background Triple-negative breast cancer (TNBC) with residual disease post chemotherapy, have increased chance of relapse and lower survival with varying degree of pathological complete response (pCR) after neoadjuvant chemotherapy (NAC). …
View article: Editing the core region in HPFH deletions alters fetal and adult globin expression for treatment of β-hemoglobinopathies
Editing the core region in HPFH deletions alters fetal and adult globin expression for treatment of β-hemoglobinopathies Open
Reactivation of fetal hemoglobin (HbF) is the commonly adapted strategy to ameliorate β-hemoglobinopathies. However, the continued production of defective adult hemoglobin (HbA) limits the HbF tetramer production affecting the therapeutic …
View article: A Pilot study of POLE mutations in endometrial cancer and its clinicopathological correlation with Microsatellite Instability and P53 mutations
A Pilot study of POLE mutations in endometrial cancer and its clinicopathological correlation with Microsatellite Instability and P53 mutations Open
Objective To determine the prevalence of Polymerase Epsilon gene (POLE) mutation, P53 mutations, and mismatch repair deficiency(dMMR) in endometrial cancer, followed by clinicopathological correlation and survival analysis Design- retrospe…
View article: Telomerase Reverse Transcriptase Promoter Mutations in A Cohort Of Adult Gliomas – Clinicopathological Correlates
Telomerase Reverse Transcriptase Promoter Mutations in A Cohort Of Adult Gliomas – Clinicopathological Correlates Open
Background: Introduction: Gliomas were previously classified histologically, although now the latest WHO classification incorporates several molecular markers to classify these. Detection of TERT promoter mutations is assuming increased im…
View article: Genes of the month: H3.3 histone genes: H3F3A and H3F3B
Genes of the month: H3.3 histone genes: H3F3A and H3F3B Open
Histones constitute the chief protein component of DNA. They help to maintain chromatin structure and regulate gene expression. The long double-stranded DNA molecule winds around histone octamers to form nucleosomes which serve the purpose…
View article: Do somatic USP8, USP48 and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing’s disease?
Do somatic USP8, USP48 and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing’s disease? Open
Purpose To estimate the prevalence of USP8, USP48 and BRAF mutations in patients with Cushing’s disease (CD) from the Indian subcontinent, and determine their genotype-phenotype correlation. Methods We prospectively recruited 46 patients w…
View article: Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study
Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study Open
Multiple Endocrine Neoplasia type-1 (MEN1) is an autosomal dominant disorder with a combined occurrence of tumours of parathyroid glands, pancreatic islets, and anterior pituitary. About 90% of these patients carry mutations in the MEN1 ge…
View article: Presurgical screening of fine needle aspirates from thyroid nodules for BRAF mutations: A prospective single center experience
Presurgical screening of fine needle aspirates from thyroid nodules for BRAF mutations: A prospective single center experience Open
BRAF positivity was lower than that reported from East Asia with the test being useful in confirming malignancies among the suspicious of malignancy and malignant categories.
View article: EGFR mutational status of primary Lung Adenocarcinoma in an Indian cohort based on 2015 WHO classification of lung tumors
EGFR mutational status of primary Lung Adenocarcinoma in an Indian cohort based on 2015 WHO classification of lung tumors Open
Background: Epidermal growth factor receptor (EGFR) mutations have been known to be associated with adenocarcinoma, women, non- smokers and East-Asian ethnicity. This study was aimed to characterize the frequency of EGFR mutations and thei…
View article: Molecular Characterization of a Novel Germline<i> VHL</i> Mutation by Extensive<i> In Silico</i> Analysis in an Indian Family with Von Hippel-Lindau Disease
Molecular Characterization of a Novel Germline<i> VHL</i> Mutation by Extensive<i> In Silico</i> Analysis in an Indian Family with Von Hippel-Lindau Disease Open
Von Hippel-Lindau [VHL] disease, an autosomal dominant hereditary cancer syndrome, is well known for its complex genotype-phenotype correlations. We looked for germline mutations in the VHL gene in an affected multiplex family with Type 1 …
View article: Phaeochromocytoma: experience from a single centre in South India
Phaeochromocytoma: experience from a single centre in South India Open
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
View article: V-raf murine sarcoma viral oncogene homolog B (BRAF) mutations in hairy cell leukaemia
V-raf murine sarcoma viral oncogene homolog B (BRAF) mutations in hairy cell leukaemia Open
A high degree of correlation was noted between the presence of BRAF p.V600E and established diagnostic criteria in 20/20 patients with HCL/HCLv. Our data supports the observation that this mutation is present in all cases of HCL and is abs…